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Paeds Vivasneurology-neurodisability-and-neuromuscular

Paeds Vivas · neurology-neurodisability-and-neuromuscular

Movement disorders, dystonia and chorea: Viva

Branching clinical structured oral on paediatric movement disorders covering the definition and classification of chorea, dystonia, myoclonus, tics and tremor, the Albanese 2013 two-axis dystonia classification, the basal ganglia direct and indirect pathway mechanism, the empiric levodopa trial in dopa-responsive dystonia, Wilson disease screening, Sydenham chorea as a major Jones criterion with penicillin prophylaxis, the acute dystonic reversal with an anticholinergic, the status dystonicus escalation ladder, and the dystonic cerebral palsy management ladder.

branching clinical structured oral3 min readVerification in progress

Target exams

RACP DWERACP DCEMRCPCH Clinical
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Target exams

RACP DWERACP DCEMRCPCH Clinical
Prompt
A previously well 6-year-old girl presents with an 8-month history of progressive lower-limb dystonia. She walks on an inturned right foot that is worse in the evening and near-normal on waking in the morning. Her brain MRI is normal. The examiner asks how you classify the movement, what single diagnostic and therapeutic step you take, what the mechanism is, how you manage a child with status dystonicus, and how you would counsel the family.

Branch 1: Naming and classifying the movement

A strong candidate names this dystonia and classifies it on the Albanese 2013 two axes. Dystonia is sustained or intermittent involuntary muscle contraction that causes twisting, repetitive movements, or abnormal postures. On axis I, the clinical characteristics, this is a childhood-onset, focal-to-generalising, action-induced lower-limb dystonia with a diurnal temporal pattern of evening worsening and morning improvement. On axis II, the aetiology, the diurnal pattern flags dopa-responsive dystonia, but the candidate keeps the inherited and acquired differentials open, including cerebral palsy, Wilson disease, and glutaric aciduria type 1, until the workup closes. The candidate also places the movement in the Sanger 2003 childhood hypertonia framework, which sorts hypertonia into spasticity, dystonia, and rigidity. [1][2]

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References6ShowHide
  1. [1]Albanese A, Bhatia K, Bressman SB, et al Phenomenology and classification of dystonia: a consensus update. Mov Disord, 2013.PMID 23649720
  2. [2]Sanger TD, Delgado MR, Gaebler-Spira D, Hallett M, Mink JW Classification and definition of disorders causing hypertonia in childhood. Pediatrics, 2003.PMID 12509602
  3. [3]Sanger TD Pediatric movement disorders. Curr Opin Neurol, 2003.PMID 12869814
  4. [6]Allen NM, Lin JP, Lynch T, King MD Status dystonicus: a practice guide. Dev Med Child Neurol, 2014.PMID 24304390
  5. [7]Vogt LM, Yang K, Tse G, et al Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus. Mov Disord, 2024.PMID 38619077
  6. [12]Segawa M Dopa-responsive dystonia. Handb Clin Neurol, 2011.PMID 21496606
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